dbSNP contains human single nucleotide variations, microsatellites, and small-scale insertions and deletions along with publication, population frequency, molecular consequence, and genomic and RefSeq mapping information for both common variations and clinical mutations. Here we provide the ClinVar subset of dbSNP.

Ontology info

Ontology id: dbsnp
Number of terms: 429613
Last loaded: Thu Apr 23 13:21:56 CEST 2020